Objective To determine whether 3'UTR polymorphisms of the NRAMP1 gene are as-sociated with tuberculosis in Uighurs. Methods 3'UTR polymorphisms of NRAMP1 gene were typed by PCR-RFLP among 224 patients with active tuberculosis and 225 healthy individuals. The relationship be-tween 3'UTR polymorphisms and susceptibility to tuberculosis was studied, and cases were grouped accord-ing to genotypes. Results In the tuberculosis patients, genotype TGTG/TGTG,TGTG/TGTG deleted, and TGTG deleted/TGTG deleted were observed in 159,56 and 9 cases respectively, while the genotypes of the healthy controls were TGTG/TGTG in 185, TGTG/TGTG deleted in 36 and TGTG deleted/TGTG deleted in 4 case. The frequency of the genotype TGTG/TGTG was found more often among controls than that in pa-tients (X2=7.94 ,P <0.01). The frequency of allele TGTG and the frequency of variant allele were 0.87 and 0.13 respectively. Conclusion 3'UTR polymorphisms of NRAMP1 gene are associated with suscepti-bility to tuberculosis in Uighurs.

Objective: To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS). Methods: Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Genomic DNA was subjected to whole exome next generation sequencing. Suspected variants were confirmed by Sanger sequencing. Results: The two patients were characterized by typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation. Two variants of the CREBBP gene, namely c. 3779+ 1G>A and c. 5052_c.5053insT, were respectively identified in the 2 patients. Among these, c. 3779+ 1G>A was a previously known pathological mutation, while c. 5052_c.5053insT was unreported previously. Both variants were predicted to be pathological. Conclusion Two cases of Rubinstein-Taybi syndrome were diagnosed, which facilitated the diagnosis and genetic counselling.

Objective This study aims to investigate the moral disgust cognitive processing of patients with obses?sive-compulsive disorder (OCD) and its relationship with OCD symptoms. Methods Twenty-eight OCD and 30 healthy controls matched for gender, age and education completed lexical decision task, recording reaction time and accuracy of words and assessing the degree of disgust. Yale-Brown obsessive-compulsive scale (Y-BOCS) and Padua Invento?ry-Washington State University Revision (PI-WUSR) were used to assess the symptoms. Results OCD group showed significantly longer reaction time to core disgust-related words [(762.69 ± 128.25) ms vs. (648.69 ± 162.66) ms] and moral disgust-related words [(798.73 ± 115.26) ms vs. (727.00 ± 106.06) ms] than the healthy controls (P<0.05). OCD group showed significantly higher aversion degree to core disgust-related words [(6.38 ± 1.78) vs. (5.03 ± 1.64)] and moral dis?gust-related words [(7.08 ± 1.23) vs. (5.77 ± 1.44)] than control group (P<0.05). Y-BOCS total score, Y-BOCS obsessive thoughts score, Y-BOCS compulsive behavior score, total score of PI-WUSR, cleaning/pollution force factor score, hurt?ing themselves and others force factor were positively correlated with two types of disgust-related words in patients group (P<0.05). Multiple stepwise regression analysis between disgust words and Y-BOCS/PI-WUSR scores pointed that only CWCF influenced disgust degree of core disgust-related words (β=0.61, P<0.01) and moral disgust-related words (β=0.54, P<0.01), respectively. Conclusion The core disgust and moral disgust of OCD are stronger compared to controls.

Objective This study aimed to investigate the glycosyltransferase gene DsUGT11 involved in the biosynthesis of flavonoids in Desmodium styracifolia,and to analyze the function of its encoding protein by bioinformatic tools,gene cloning,prokaryotic expression,and other technologies.Methods The sequence characteristics and potential biological functions of DsUGT11 were analyzed and predicted by bioinformatics analysis,respectively.Total RNA was extracted from fresh leaves and reverse transcribed into cDNA,from which DsUGT11 gene was successfully amplified and cloned.Heterologous expressed protein was induced and purified,followed by functional characterization using enzymatic reaction in vitro.Results A candidate glycosyltransferase gene,designated as DsUGT11,was identified from the transcriptome data of D.styracifolia.The length of the open reading frame of DsUGT11 is 1426 bp,and the molecular weight of its encoding protein is expected to be 52.14 KDa.By bioinformatic analysis,DsUGT11 was found to harvest a conserved motif of"PSPG"that is unique to the UGT family.Moreover,DsUGT11 was successfully amplified and cloned using the prokaryotic expression vector pMALc5X.Recombinant protein was induced and purified subsequently.Next,the purified protein was used to perform the enzymatic reaction in vitro,the result of which suggested that DsUGT11 was able to catalyze the conversion of 2-OH-naringenin and UDP-glucose into three different compounds,one of which was authenticated as apigenin-7-O-β-D-glucoside(also known as Apigetrin),with two others unknown.Conclusion In this study,the DsUGT11 gene was identified and cloned,whose encoding protein is a flavone-oxyglycosyltransferase catalyzing the conversion of 2-OH-naringenin and UDP-glucose into three different compounds including Apigetrin.

OBJECTIVE: To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS). METHODS: Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Genomic DNA was subjected to whole exome next generation sequencing. Suspected variants were confirmed by Sanger sequencing. RESULTS: The two patients were characterized by typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation. Two variants of the CREBBP gene, namely c.3779+1G>A and c.5052_c.5053insT, were respectively identified in the 2 patients. Among these, c.3779+1G>A was a previously known pathological mutation, while c.5052_c.5053insT was unreported previously. Both variants were predicted to be pathological. CONCLUSION Two cases of Rubinstein-Taybi syndrome were diagnosed, which facilitated the diagnosis and genetic counselling.
CREB-Binding Protein ; genetics ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Phenotype ; Rubinstein-Taybi Syndrome ; genetics

Objective:To evaluate the efficacy of acrivastine alone or in combination with loratadine in the treatment of chronic refractory urticaria.Methods:From March 2017 to December 2018, a multicenter, randomized, controlled clinical study was conducted in 4 centers. Patients with chronic refractory urticaria were randomly divided into two groups, i.e., combined treatment group receiving oral acrivastine capsules 8 mg thrice a day plus oral loratadine tablets 10 mg once a day, and acrivastine alone group receiving oral acrivastine capsules 8 mg thrice a day plus a placebo 10 mg once a day. The course of treatment was 4 weeks. Visits were scheduled at baseline and after 1, 2 and 4 weeks of treatment. At the same time, clinical data were collected, and adverse events were recorded. Symptom scores were evaluated based on degree of itching, number and size of wheals, duration of each attack and number of attacks per week, and symptom score reduce index (SSRI) was used to evaluate the efficacy. Repeated measures analysis of variance and chi-square test were used to evaluate the efficacy and safety.Results:Fifty-three patients in the combined treatment group and 59 in the acrivastine alone group were included in the efficacy analysis. Before treatment, there was no significant difference in symptom score or visual analogue score between the two groups. After 2 weeks of treatment, 19 patients were cured and 10 achieved marked improvement in the combined treatment group, with a response rate of 54.72%; 15 were cured and 6 achieved marked improvement in the acrivastine alone group, with a response rate of 35.59%. After 4 weeks of treatment, 23 patients were cured and 9 achieved marked improvement in the combined treatment group, with a response rate of 60.38%; 20 were cured and 2 achieved marked improvement in the acrivastine alone group, with a response rate of 37.29%. After 2 and 4 weeks of treatment, the response rates were significantly higher in the combined treatment group than in the acrivastine alone group ( χ2 = 4.13, 5.96 respectively, both P < 0.05) . The SSRI significantly differed among different follow-up time points, as well as between the 2 groups ( F = 8.62, 4.38 respectively, both P < 0.05) . Multivariate analysis of variance showed that SSRI was significantly higher in the combined treatment group (0.63 ± 0.05, 0.68 ± 0.05, respectively) than in the acrivastine alone group (0.47 ± 0.05, 0.51 ± 0.05, respectively) after 2 and 4 weeks of treatment (both P < 0.05) . Drug-related adverse reactions, including drowsiness, stomach upsets, headache and liver function abnormality, occurred in 7 patients in the combined treatment group, as well as in 3 in the acrivastine alone group. Conclusion:Acrivastine is safe and effective for the treatment of chronic refractory urticaria, and acrivastine combined with loratadine can markedly improve the efficacy.

Objective A HPLC-quantitative analysis of multi-components by single marker(QAMS)was established to determine 5 ingredients including uracil,uridine,hypoxanthine,inosine and guanosine in Periplaneta americana.Methods Separation took place on a Agilent ZORBAX SB-Aq column(250 mm×4.6 mm,5 μm)by gradient elution of methanol-0.01 mol·L-1 potassium dihydrogen phosphate at 20℃with a flow rate of 1.0 mL·min-1.The detection wavelength was 260 nm and the injection amount was 10 μL.The relative correction factors(fa/b)was calculated for the other four components with uridine as an internal standard.The content of 5 ingredients in 10 batches of Periplaneta americana was determined by QAMS.Results were compared with those of external standard method(ESM).Results Five nucleosides showed good linear relationships in their own ranges(r＞0.999 5),and the average recoveries ranged from 97.0%to 100.8%.The relative correction factors of uracil,hypoxanthine,inosine and guanosine were 0.908 0,1.005 3,1.969 5 and 1.303 4,respectively.Conclusion The established method is accurate and stable.It can provide theoretical reference for the quality control of Periplaneta americana.